Mevalonic aciduria
Overview
Mevalonic aciduria, also called mevalonate kinase deficiency, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.
Symptoms
The list of signs and symptoms mentioned in various sources for Mevalonic aciduria includes the 10 symptoms listed below: Failure to thrive Reduced muscle tone Ataxia Psychomotor retardation Developmental delay Ataxia Enlarged liver Enlarged spleen Dysmorphic features Excess mevalonic acid in the urine Note that Mevalonic aciduria symptoms usually refers to various symptoms known to a patient, but the phrase Mevalonic aciduria signs may refer to those signs only noticable by a doctor.
Diagnosis
Mevalonic aciduria causes an accumulation of mevalonic acid, detected in the urine, resulting from the deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). It was first described in 1985. Classified as an inborn error of metabolism, the disorder usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, among many other manifestations, and an overall failure to thrive.